SOX3

Description

The SOX3 (SRY-box transcription factor 3) is a protein-coding gene located on chromosome X.

SOX3, encoded by the SOX3 gene, is a transcription factor belonging to the SOX family. It is crucial for regulating embryonic brain development and determining cell fate. Mutations in SOX3 have been linked to X-linked hypopituitarism (XH) and X-linked mental retardation. Individuals with XH, who are male, exhibit short stature, mild mental retardation, and pan-hypopituitarism. Duplication of the SOX3 gene has been associated with XX male sex reversal. Alongside other SOX transcription factors, SOX3 ensures proper formation of the hypothalamo-pituitary axis, which is essential for regulating systemic hormonal function.

SOX3 is also known as GHDX, MRGH, PHP, PHPX, SOXB.

Associated Diseases

• Panhypopituitarism, X-linked
• Non-acquired panhypopituitarism
• 46,XX testicular difference of sex development
• Mental retardation, X-linked, with isolated growth hormone deficiency
• Septo-optic dysplasia spectrum
• X-linked intellectual disability with isolated growth hormone deficiency